中国听力语言康复科学杂志Issue(2)：109-112,4.DOI:10.3969/j.issn.1672-4933.2014.02.009
15343例新生儿耳聋基因普遍筛查结果分析
An Analysis of the Deafness-related Gene Screening Results of 15343 Newborns
摘要
Abstract
Objective To explore the significance of deafness-related newborn gene screening and to provide ear and hearing care guidance to parents. Methods 15,343 neonates received the screening of 9 mutation sites of 4 deafness-related genes, including GJB2 (35delG, 176del16,235delC, 299_300delAT), SLC26A4 (IVS7-2A>G, 2168A>G), mitochondrial DNA12S rRNA (1494C>T,1555A>G,) and GJB3 (538C>T), respectively. Results The numbers of neonates who carried heterozygous mutations in GJB2, SLC26A4, and GJB3 were 277, 188, and 34 and the corresponding carrier rates were 1.8%,1.2% and 0.2%, respectively. The number of neonates who carried homogeneous or heterogeneous mutation in mitochondrial 12S rRNA gene was 46 with a carrier rate of 0.3%. In all, 545 cases were found to carry deafness-related gene mutation with a carrier rate of 3.6%. 2 cases were found to carry compound heterozygous mutations and 6 cases were found to carry double heterozygous mutations. Conclusions Neonatal deafness-related gene screening may be useful in early detection, diagnosis and intervention of the hearing-impaired children.关键词
新生儿/耳聋基因筛查/听力筛查Key words
Neonate/Deafness-related gene screening/Hearing screening引用本文复制引用
周怡,刘海红,郝津生,张亚梅,张杰,徐放,申阿东..15343例新生儿耳聋基因普遍筛查结果分析[J].中国听力语言康复科学杂志,2014,(2):109-112,4.基金项目
国家自然科学基金资助项目 （）
